ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.957G>A (p.Leu319=)

gnomAD frequency: 0.00717  dbSNP: rs36047324
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127417 SCV000170980 benign not specified 2013-06-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000967794 SCV001115213 benign not provided 2025-01-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001914 SCV001159668 benign Pyruvate dehydrogenase E3-binding protein deficiency 2019-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757963 SCV005352143 benign PDHX-related disorder 2024-05-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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